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  A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

Budny, B., Chen, W., Omran, H., Fliegauf, M., Tzschach, A., Wisniewska, M., et al. (2006). A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Human Genetics, 120(2), 171-178. doi:10.1007/s00439-006-0210-5.

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Genre: Journal Article
Alternative Title : Hum. Gen.

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 Creators:
Budny, Bartlomiej1, Author
Chen, Wei2, Author           
Omran, Heymut, Author
Fliegauf, Manfred, Author
Tzschach, Andreas2, Author           
Wisniewska, Marzena, Author
Jensen, Lars R.3, Author           
Raynaud, Martine, Author
Shoichet, Sarah A.2, Author           
Badura, Magda, Author
Lenzner, Steffen1, Author
Latos-Bielenska, Anna, Author
Ropers, Hans-Hilger2, Author           
Affiliations:
1Max Planck Society, ou_persistent13              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

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 Abstract: We report on a large family in which a novel X-linked recessive mental retardation (XLMR) syndrome comprising macrocephaly and ciliary dysfunction co-segregates with a frameshift mutation in the OFD1 gene. Mutations of OFD1 have been associated with oral–facial–digital type 1 syndrome (OFD1S) that is characterized by X-chromosomal dominant inheritance and lethality in males. In contrast, the carrier females of our family were clinically inconspicuous, and the affected males suffered from severe mental retardation, recurrent respiratory tract infections and macrocephaly. All but one of the affected males died from respiratory problems in infancy; and impaired ciliary motility was confirmed in the index patient by high-speed video microscopy examination of nasal epithelium. This family broadens the phenotypic spectrum of OFD1 mutations in an unexpected way and sheds light on the complexity of the underlying disease mechanisms. Electronic Supplementary Material Supplementary material is available to authorised users in the online version of this article at http://dx.doi.org/10.1007/s00439-006-0210-5.

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Language(s): eng - English
 Dates: 2006-06-17
 Publication Status: Published in print
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 Identifiers: eDoc: 307327
DOI: 10.1007/s00439-006-0210-5
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Title: Human Genetics
  Alternative Title : Hum. Gen.
Source Genre: Journal
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Pages: - Volume / Issue: 120 (2) Sequence Number: - Start / End Page: 171 - 178 Identifier: ISSN: 0340-6717